Canonical Allele Identifier: CA387899777
Gene: FREM2 HGNC NCBI

Linked Data

dbSNP Id: rs200997496

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38864286G>C , CM000675.2:g.38864286G>C GRCh38
NC_000013.10:g.39438423G>C , CM000675.1:g.39438423G>C GRCh37
NC_000013.9:g.38336423G>C NCBI36
NG_008125.2:g.182251G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000280481.9:c.7663G>C MANE Select ENSP00000280481.7:p.Val2555Leu
ENST00000280481.8:c.7663G>C ENSP00000280481.7:p.Val2555Leu
NM_207361.5:c.7663G>C NP_997244.4:p.Val2555Leu
NM_207361.6:c.7663G>C MANE Select NP_997244.4:p.Val2555Leu